Brain communications最新文献

{"title":"Cerebral hyperactivation across the Alzheimer's disease pathological cascade.","authors":"Nick Corriveau-Lecavalier, Jenna N Adams, Larissa Fischer, Eóin N Molloy, Anne Maass","doi":"10.1093/braincomms/fcae376","DOIUrl":"https://doi.org/10.1093/braincomms/fcae376","url":null,"abstract":"<p><p>Neuronal dysfunction in specific brain regions or across distributed brain networks is a known feature of Alzheimer's disease. An often reported finding in the early stage of the disease is the presence of increased functional MRI (fMRI) blood oxygenation level-dependent signal under task conditions relative to cognitively normal controls, a phenomenon known as 'hyperactivation'. However, research in the past decades yielded complex, sometimes conflicting results. The magnitude and topology of fMRI hyperactivation patterns have been found to vary across the preclinical and clinical spectrum of Alzheimer's disease, including concomitant 'hypoactivation' in some cases. These incongruences are likely due to a range of factors, including the disease stage at which the cohort is examined, the brain areas or networks studied and the fMRI paradigm utilized to evoke these functional abnormalities. Additionally, a perennial question pertains to the nature of hyperactivation in the context of Alzheimer's disease. Some propose it reflects compensatory mechanisms to sustain cognitive performance, while others suggest it is linked to the pathological disruption of a highly regulated homeostatic cycle that contributes to, or even drives, disease progression. Providing a coherent narrative for these empirical and conceptual discrepancies is paramount to develop disease models, understand the synergy between hyperactivation and the Alzheimer's disease pathological cascade and tailor effective interventions. We first provide a comprehensive overview of functional brain changes spanning the course from normal ageing to the clinical spectrum of Alzheimer's disease. We then highlight evidence supporting a close relationship between fMRI hyperactivation and <i>in vivo</i> markers of Alzheimer's pathology. We primarily focus on task-based fMRI studies in humans, but also consider studies using different functional imaging techniques and animal models. We then discuss the potential mechanisms underlying hyperactivation in the context of Alzheimer's disease and provide a testable framework bridging hyperactivation, ageing, cognition and the Alzheimer's disease pathological cascade. We conclude with a discussion of future challenges and opportunities to advance our understanding of the fundamental disease mechanisms of Alzheimer's disease, and the promising development of therapeutic interventions incorporating or aimed at hyperactivation and large-scale functional systems.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 6","pages":"fcae376"},"PeriodicalIF":4.1,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced MRI-based brain tumour classification with a novel Pix2pix generative adversarial network augmentation framework.","authors":"Efe Precious Onakpojeruo, Mubarak Taiwo Mustapha, Dilber Uzun Ozsahin, Ilker Ozsahin","doi":"10.1093/braincomms/fcae372","DOIUrl":"10.1093/braincomms/fcae372","url":null,"abstract":"<p><p>The scarcity of medical imaging datasets and privacy concerns pose significant challenges in artificial intelligence-based disease prediction. This poses major concerns to patient confidentiality as there are now tools capable of extracting patient information by merely analysing patient's imaging data. To address this, we propose the use of synthetic data generated by generative adversarial networks as a solution. Our study pioneers the utilisation of a novel Pix2Pix generative adversarial network model, specifically the 'image-to-image translation with conditional adversarial networks,' to generate synthetic datasets for brain tumour classification. We focus on classifying four tumour types: glioma, meningioma, pituitary and healthy. We introduce a novel conditional deep convolutional neural network architecture, developed from convolutional neural network architectures, to process the pre-processed generated synthetic datasets and the original datasets obtained from the Kaggle repository. Our evaluation metrics demonstrate the conditional deep convolutional neural network model's high performance with synthetic images, achieving an accuracy of 86%. Comparative analysis with state-of-the-art models such as Residual Network50, Visual Geometry Group 16, Visual Geometry Group 19 and InceptionV3 highlights the superior performance of our conditional deep convolutional neural network model in brain tumour detection, diagnosis and classification. Our findings underscore the efficacy of our novel Pix2Pix generative adversarial network augmentation technique in creating synthetic datasets for accurate brain tumour classification, offering a promising avenue for improved disease prediction and treatment planning.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 6","pages":"fcae372"},"PeriodicalIF":4.1,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11528519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"White matter protection with insulin-like growth factor-1 after hypoxia-ischaemia in preterm foetal sheep.","authors":"Guido Wassink, Kenta H T Cho, Sam Mathai, Christopher A Lear, Justin M Dean, Alistair J Gunn, Laura Bennet","doi":"10.1093/braincomms/fcae373","DOIUrl":"10.1093/braincomms/fcae373","url":null,"abstract":"<p><p>Perinatal hypoxia-ischaemia in extremely preterm infants is associated with long-term neurodevelopmental impairment, for which there is no specific treatment. Insulin-like growth factor-1 can reduce acute brain injury, but its effects on chronic white matter injury after hypoxia-ischaemia are unclear. Preterm-equivalent foetal sheep (0.6 gestation) received either sham-asphyxia or asphyxia induced by umbilical cord occlusion for 30 min, and recovered for either 3 or 35 days after asphyxia. The 35 day recovery groups received either an intracerebroventricular infusion of insulin-like growth factor-1 (1 µg/24 h) or vehicle, from 3 to 14 days after asphyxia. Asphyxia was associated with ventricular enlargement, and loss of frontal and parietal white matter area (<i>P</i> < 0.05 versus sham-asphyxia). This was associated with reduced area fraction of myelin basic protein and numbers of oligodendrocyte transcription factor 2 and mature, anti-adenomatous polyposis coli-positive oligodendrocytes in periventricular white matter (<i>P</i> < 0.05), with persistent inflammation and caspase-3 activation (<i>P</i> < 0.05). Four of eight foetuses developed cystic lesions in temporal white matter. Prolonged infusion with insulin-like growth factor-1 restored frontal white matter area, improved numbers of oligodendrocyte transcription factor 2-positive and mature, anti-adenomatous polyposis coli-positive oligodendrocytes, with reduced astrogliosis and microgliosis after 35 days recovery (<i>P</i> < 0.05 versus asphyxia). One of four foetuses developed temporal cystic lesions. Functionally, insulin-like growth factor-1-treated foetuses had faster recovery of EEG power, but not spectral edge. Encouragingly, these findings show that delayed, prolonged, insulin-like growth factor-1 treatment can improve functional maturation of periventricular white matter after severe asphyxia in the very immature brain, at least in part by suppressing chronic neural inflammation.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 6","pages":"fcae373"},"PeriodicalIF":4.1,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The spine-brain axis: is spinal anatomy associated with brain volume?","authors":"Sergio Grosu, Trayana Nikolova, Roberto Lorbeer, Veit M Stoecklein, Susanne Rospleszcz, Nicola Fink, Christopher L Schlett, Corinna Storz, Ebba Beller, Daniel Keeser, Margit Heier, Lena S Kiefer, Elke Maurer, Sven S Walter, Birgit B Ertl-Wagner, Jens Ricke, Fabian Bamberg, Annette Peters, Sophia Stoecklein","doi":"10.1093/braincomms/fcae365","DOIUrl":"10.1093/braincomms/fcae365","url":null,"abstract":"<p><p>First small sample studies indicate that disturbances of spinal morphology may impair craniospinal flow of cerebrospinal fluid and result in neurodegeneration. The aim of this study was to evaluate the association of cervical spinal canal width and scoliosis with grey matter, white matter, ventricular and white matter hyperintensity volumes of the brain in a large study sample. Four hundred participants underwent whole-body 3 T magnetic resonance imaging. Grey matter, white matter and ventricular volumes were quantified using a warp-based automated brain volumetric approach. Spinal canal diameters were measured manually at the cervical vertebrae 2/3 level. Scoliosis was evaluated using manual measurements of the Cobb angle. Linear binomial regression analyses of measures of brain volumes and spine anatomy were performed while adjusting for age, sex, hypertension, cholesterol levels, body mass index, smoking and alcohol consumption. Three hundred eighty-three participants were included [57% male; age: 56.3 (±9.2) years]. After adjustment, smaller spinal canal width at the cervical vertebrae 2/3 level was associated with lower grey matter (<i>P</i> = 0.034), lower white matter (<i>P</i> = 0.012) and higher ventricular (<i>P</i> = 0.006, inverse association) volume. Participants with scoliosis had lower grey matter (<i>P</i> = 0.005), lower white matter (<i>P</i> = 0.011) and larger brain ventricular (<i>P</i> = 0.003) volumes than participants without scoliosis. However, these associations were attenuated after adjustment. Spinal canal width at the cervical vertebrae 2/3 level and scoliosis were not associated with white matter hyperintensity volume before and after adjustment (<i>P</i> > 0.864). In our study, cohort smaller spinal canal width at the cervical vertebrae 2/3 level and scoliosis were associated with lower grey and white matter volumes and larger ventricle size. These characteristics of the spine might constitute independent risk factors for neurodegeneration.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae365"},"PeriodicalIF":4.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A glycan biomarker predicts cognitive decline in amyloid- and tau-negative patients.","authors":"Robin Ziyue Zhou, Frida Duell, Michael Axenhus, Linus Jönsson, Bengt Winblad, Lars O Tjernberg, Sophia Schedin-Weiss","doi":"10.1093/braincomms/fcae371","DOIUrl":"10.1093/braincomms/fcae371","url":null,"abstract":"<p><p>Early detection of Alzheimer's disease is vital for timely treatment. Existing biomarkers for Alzheimer's disease reflect amyloid- and tau-related pathology, but it is unknown whether the disease can be detected before cerebral amyloidosis is observed. N-glycosylation has been suggested as an upstream regulator of both amyloid and tau pathology, and levels of the N-glycan structure bisecting N-acetylglucosamine (GlcNAc) correlate with tau in blood and CSF already at pre-clinical stages of the disease. Therefore, we aimed to evaluate whether bisecting GlcNAc could predict future cognitive decline in patients from a memory clinic cohort, stratified by amyloid/tau status. We included 251 patients (mean age: 65.6 ± 10.6 years, 60.6% female) in the GEDOC cohort, from the Memory Clinic at Karolinska University Hospital, Stockholm, Sweden. Patients were classified as amyloid/tau positive or negative based on CSF biomarkers. Cognitive decline, measured by longitudinal Mini-Mental State Examination scores, was followed for an average of 10.7 ± 4.1 years and modelled using non-linear mixed effects models. Additionally, bisecting GlcNAc levels were measured in hippocampus and cortex with lectin-based immunohistochemistry in 10 Alzheimer's disease and control brains. We found that CSF bisecting GlcNAc levels were elevated in tau-positive individuals compared with tau-negative individuals, but not in amyloid-positive individuals compared with amyloid-negative individuals. In the whole sample, high levels of CSF bisecting GlcNAc predicted earlier cognitive decline. Strikingly, amyloid/tau stratification showed that high CSF bisecting GlcNAc levels predicted earlier cognitive decline in amyloid-negative patients (<i>β</i> = 2.53 ± 0.85 years, <i>P</i> = 0.003) and tau-negative patients (<i>β</i> = 2.43 ± 1.01 years, <i>P</i> = 0.017), but not in amyloid- or tau-positive patients. Finally, histochemical analysis of bisecting GlcNAc showed increased levels in neurons in hippocampus and cortex of Alzheimer's disease compared with control brain (fold change = 1.44-1.49, <i>P</i> < 0.001). In conclusion, high CSF levels of bisecting GlcNAc reflected neuronal pathology and predicted cognitive decline in amyloid- and tau-negative individuals, suggesting that abnormal glycosylation precedes cerebral amyloidosis and tau hyper-phosphorylation in Alzheimer's disease. Bisecting GlcNAc is a promising novel early biomarker for Alzheimer's disease.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 6","pages":"fcae371"},"PeriodicalIF":4.1,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11528473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Innovations and challenges in predicting cognitive trajectories after stroke.","authors":"Nele Demeyere, Margaret J Moore","doi":"10.1093/braincomms/fcae364","DOIUrl":"10.1093/braincomms/fcae364","url":null,"abstract":"<p><p>This scientific commentary refers to 'Deep learning disconnectomes to accelerate and improve long-term predictions for post-stroke symptoms', by Matsulevits <i>et al</i>. (https://doi.org/10.1093/braincomms/fcae338).</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae364"},"PeriodicalIF":4.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The cingulum: a central hotspot for the battle against chronic intractable pain?","authors":"Linda Kollenburg, Hisse Arnts, Alexander Green, Ido Strauss, Kris Vissers, Saman Vinke, Erkan Kurt","doi":"10.1093/braincomms/fcae368","DOIUrl":"10.1093/braincomms/fcae368","url":null,"abstract":"<p><p>Chronic pain causes a major burden on patient's lives, in part due to its profound socioeconomic impact. Despite the development of various pharmacological approaches and (minor) invasive treatments, a subset of patients remain refractory, hence why alternative targeted neurosurgical interventions like cingulotomy and deep brain stimulation of the anterior cingulate cortex should be considered in the last resort. Despite clinical evidence supporting the potential of these treatments in the management of chronic intractable pain, physicians remain reluctant on its clinical implementation. This can be partially attributed to the lack of clear overviews summarizing existent data. Hence, this article aims to evaluate the current status of cingulotomy and deep brain stimulation of the anterior cingulate cortex in the treatment of chronic intractable pain, to provide insight in whether these neurosurgical approaches and its target should be reconsidered in the current era. In the current study, a literature searches was performed using the PubMed database. Additional articles were searched manually through reviews or references cited within the articles. After exclusion, 24 and 5 articles remained included in the analysis of cingulotomy and deep brain stimulation of the anterior cingulate cortex, respectively. Results indicate that various surgical techniques have been described for cingulotomy and deep brain stimulation of the anterior cingulate cortex. Cingulotomy is shown to be effective 51-53% and 43-64% of patients with neoplastic and non-neoplastic pain at ≤6 months follow-up, and 82% (9/11) and 76% (90/118) at ≥ 12months follow-up, respectively. With regard to deep brain stimulation of the anterior cingulate cortex, no data on neoplastic pain was reported, however, 59% (10/17) and 57% (8/14) of patients with non-neoplastic pain were considered responders at ≤ 6 months and ≥ 12months follow-up, respectively. The most reported adverse events include change in affect (>6.9%, >29/420) and confusion (>4.8%, >20/420) for cingulotomy, and infection (12.8%, 6/47), seizures (8.5%, 4/47) and decline in semantic fluency (6.4%, 3/47) for deep brain stimulation of the anterior cingulate cortex. It can be concluded that cingulotomy and deep brain stimulation of the anterior cingulate cortex are effective last resort strategies for patients with refractory non-neoplastic and neoplastic pain, especially in case of an affective emotional component. Future research should be performed on the cingulum as a neurosurgical target as it allows for further exploration of promising treatment options for chronic intractable pain.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae368"},"PeriodicalIF":4.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11522883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of homocysteine, vitamin B12 and folic acid between rural and urban ageing Indians and its association with mild cognitive impairment and cardiovascular risk factors: a cross-sectional analysis.","authors":"Divya N Mallikarjun, Palash Kumar Malo, Abhishek Mensegere, Ajith Partha, Jonas S Sundarakumar, Thomas Gregor Issac, Latha Diwakar","doi":"10.1093/braincomms/fcae343","DOIUrl":"https://doi.org/10.1093/braincomms/fcae343","url":null,"abstract":"<p><p>The relationship between blood levels of homocysteine (HCY), vitamin B12, folic acid and cognitive impairment is inconclusive. Since HCY is an independent risk factor for cardiovascular diseases, understanding its association with Framingham risk score (FRS) may provide insight into the shared underlying mechanism between cardiovascular disease and cognitive impairment. Cross-sectional analyses utilized baseline data from two ongoing longitudinal studies: the Tata Longitudinal Study of Ageing (<i>n</i> = 923), an urban cohort, and Srinivaspura Ageing, NeuroSenescence and COGnition (<i>n</i> = 4239), a rural cohort. The study compared the HCY, vitamin B12 and folic acid levels across cohorts and normal versus mild cognitive impairment (MCI) participants. The association between HCY and cognitive status was established using regression models. Three models were analysed: model 1-unadjusted; model 2-adjusted for age, gender, smoking, alcohol consumption, diet, hypertension, cardiac illness, diabetes; and model 3-adjusted for variables in model 2 plus vitamin B12 and folic acid. Correlation was calculated between HCY and FRS. The urban cohort exhibited a significantly higher level of HCY [median (IQR) (17.70 (10.2) versus 14.70 (9.7); <i>P</i> < 0.001)], vitamin B12 (251 (231) versus 219 (138); <i>P</i> < 0.001) and folic acid (8.21 (8) versus 5.48 (4); <i>P</i> < 0.001) levels compared to rural cohort. HCY, vitamin B12 and folic acid levels did not differ significantly between normal and MCI participants in the urban cohort. In the rural cohort, among the age-gender matched MCI-normal, participants with normal cognition had higher levels of vitamin B12 (≥60 years) [227 (152) versus 217 (175); <i>P</i> = 0.03] and folic acid (<60 years) [5.91 (4) versus 5.40 (4); <i>P</i> = 0.04] compared to MCI. There was no association between HCY and cognitive status in both the cohorts, but there was a significant positive relationship between vitamin B12 deficiency and Clinical Dementia Rating-Sum of the Boxes (CDR-SOB), as well as folic acid deficiency and CDR-SOB in rural and urban cohorts, respectively, within a specific age group. A significant correlation was observed between FRS and HCY in the rural cohort (r = 0.17, <i>P</i> < 0.001), but not in the urban cohort. This study revealed significant differences in HCY, vitamin B12 and folic acid levels between the cohorts. In the rural cohort, participants with MCI had lower vitamin B12 and folic acid levels in a certain age group. Association between HCY and cognitive status was insignificant in both the cohorts. A small significant correlation between FRS and HCY was seen in the rural cohort.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae343"},"PeriodicalIF":4.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11474239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142483040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant.","authors":"Renae J Stefanetti, Jane Newman, Alasdair P Blain, Donella Chisari, Gráinne S Gorman, Gary Rance","doi":"10.1093/braincomms/fcae361","DOIUrl":"10.1093/braincomms/fcae361","url":null,"abstract":"<p><p>Hearing impairment is a frequent clinical feature in patients with mitochondrial disease harbouring the pathogenic variant, m.3243A>G. However, auditory neural dysfunction, its perceptual consequences and implications for patient management are not established. Similarly, the association with vestibular impairment has not yet been explored. This case-control study investigated in 12 adults with genetically confirmed m.3243A>G adults [9 females; 45.5 ± 16.3 years (range 18-66); 47.1 ± 21.5 hearing level, dB] compared with 12 age, sex and hearing level-matched controls with sensory (cochlear level) hearing loss [9 females; 46.6 ± 11.8 years (range 23-59); 47.7 ± 25.4 hearing level, dB]. Participants underwent a battery of electroacoustic, electrophysiologic and perceptual tests, which included pure tone audiometry, otoacoustic emissions, auditory brainstem responses, auditory temporal processing measures, monaural/binaural speech perception, balance and vestibular testing and self-reported questionnaires (dizziness and hearing disability). Our findings showed evidence of auditory neural abnormality and perceptual deficits greater than expected for cochlear pathology. Compared with matched controls with sensory hearing loss, adults with mitochondrial disease harbouring m.3243A>G had abnormal electrophysiologic responses from the VIII nerve and auditory brainstem (<i>P</i> = 0.005), an impaired capacity to encode rapidly occurring acoustic signal changes (<i>P</i> = 0.005), a reduced ability to localize sound sources (<i>P</i> = 0.028) and impaired speech perception in background noise (<i>P</i> = 0.008). Additionally, vestibular dysfunction (<i>P</i> = 0.011), greater perceived dizziness (<i>P</i> = 0.001) and reduced stance time (balance, <i>P</i> = 0.009) were also seen in participants with m.3243A>G mitochondrial disease when compared with matched counterparts. This pilot study revealed that auditory evaluation including evoked potential responses from the auditory nerve/brainstem and speech perception in noise tests should form an important part of the management for individuals with m.3243A>G-related mitochondrial disease. Those presenting with hearing impairment and symptoms concerning balance and dizziness should undergo vestibular testing and appropriate management.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 6","pages":"fcae361"},"PeriodicalIF":4.1,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11532826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Simulated resections and responsive neurostimulator placement can optimize postoperative seizure outcomes when guided by fast ripple networks.","authors":"Shennan Aibel Weiss, Michael R Sperling, Jerome Engel, Anli Liu, Itzhak Fried, Chengyuan Wu, Werner Doyle, Charles Mikell, Sima Mofakham, Noriko Salamon, Myung Shin Sim, Anatol Bragin, Richard Staba","doi":"10.1093/braincomms/fcae367","DOIUrl":"10.1093/braincomms/fcae367","url":null,"abstract":"<p><p>In medication-resistant epilepsy, the goal of epilepsy surgery is to make a patient seizure free with a resection/ablation that is as small as possible to minimize morbidity. The standard of care in planning the margins of epilepsy surgery involves electroclinical delineation of the seizure-onset zone and incorporation of neuroimaging findings from MRI, PET, single-photon emission CT and magnetoencephalography modalities. Resecting cortical tissue generating high-frequency oscillations has been investigated as a more efficacious alternative to targeting the seizure-onset zone. In this study, we used a support vector machine (SVM), with four distinct fast ripple (FR: 350-600 Hz on oscillations, 200-600 Hz on spikes) metrics as factors. These metrics included the FR resection ratio, a spatial FR network measure and two temporal FR network measures. The SVM was trained by the value of these four factors with respect to the actual resection boundaries and actual seizure-free labels of 18 patients with medically refractory focal epilepsy. Leave-one-out cross-validation of the trained SVM in this training set had an accuracy of 0.78. We next used a simulated iterative virtual resection targeting the FR sites that were of highest rate and showed most temporal autonomy. The trained SVM utilized the four virtual FR metrics to predict virtual seizure freedom. In all but one of the nine patients who were seizure free after surgery, we found that the virtual resections sufficient for virtual seizure freedom were larger in volume (<i>P</i> < 0.05). In nine patients who were not seizure free, a larger virtual resection made five virtually seizure free. We also examined 10 medically refractory focal epilepsy patients implanted with the responsive neurostimulator system and virtually targeted the responsive neurostimulator system stimulation contacts proximal to sites generating FR at highest rates to determine if the simulated value of the stimulated seizure-onset zone and stimulated FR metrics would trend towards those patients with a better seizure outcome. Our results suggest the following: (i) FR measures can accurately predict whether a resection, defined by the standard of care, will result in seizure freedom; (ii) utilizing FR alone for planning an efficacious surgery can be associated with larger resections; (iii) when FR metrics predict the standard-of-care resection will fail, amending the boundaries of the planned resection with certain FR-generating sites may improve outcome and (iv) more work is required to determine whether targeting responsive neurostimulator system stimulation contact proximal to FR generating sites will improve seizure outcome.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"6 5","pages":"fcae367"},"PeriodicalIF":4.1,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}